A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

Denise Cassandrini; Maria Grazia Calevo; Alessandra Tessa; Giovanni Manfredi; Fabiana Fattori; Maria Chiara Meschini; Rosalba Carrozzo; Emmanuel Tonoli; Marina Pedemonte; Carlo Minetti; Federico Zara; Filippo M. Santorelli; Claudio Bruno

doi:10.1016/j.bbrc.2006.01.152

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

Denise Cassandrini, Maria Grazia Calevo, Alessandra Tessa, Giovanni Manfredi, Fabiana Fattori, Maria Chiara Meschini, Rosalba Carrozzo, Emmanuel Tonoli, Marina Pedemonte, Carlo Minetti, Federico Zara, Filippo M. Santorelli, Claudio Bruno

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Abstract

Determination of mitochondrial DNA (mtDNA) heteroplasmy for the diagnosis of patients with mitochondrial disorders is a difficult task due to the coexistence of wild-type and mutant genomes. We have developed a new method for genotyping and quantification of heteroplasmic point mutations in mtDNA based on the SNaPshot technology. We compared the data of this method with the widely used "last hot-cycle" PCR-RFLP method by studying 15 patients carrying mtDNA mutations. We showed that SNaPshot is an accurate, reproducible, and sensitive technique for the determination of heteroplasmic mtDNA mutations in different tissues from patients, and it is a promising system to be used in prenatal and postnatal diagnosis of mtDNA-associated disorders.

Original language	English
Pages (from-to)	387-393
Number of pages	7
Journal	Biochemical and Biophysical Research Communications
Volume	342
Issue number	2
DOIs	https://doi.org/10.1016/j.bbrc.2006.01.152
Publication status	Published - Apr 7 2006

Keywords

Heteroplasmy
Mitochondria
mtDNA
SNaPshot technology

ASJC Scopus subject areas

Biochemistry
Biophysics
Molecular Biology

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10.1016/j.bbrc.2006.01.152

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Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., & Bruno, C. (2006). A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy. Biochemical and Biophysical Research Communications, 342(2), 387-393. https://doi.org/10.1016/j.bbrc.2006.01.152

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy. / Cassandrini, Denise ; Calevo, Maria Grazia ; Tessa, Alessandra; Manfredi, Giovanni; Fattori, Fabiana; Meschini, Maria Chiara; Carrozzo, Rosalba; Tonoli, Emmanuel; Pedemonte, Marina ; Minetti, Carlo ; Zara, Federico ; Santorelli, Filippo M.; Bruno, Claudio.

In: Biochemical and Biophysical Research Communications, Vol. 342, No. 2, 07.04.2006, p. 387-393.

Research output: Contribution to journal › Article › peer-review

Cassandrini, D , Calevo, MG , Tessa, A, Manfredi, G, Fattori, F, Meschini, MC, Carrozzo, R, Tonoli, E, Pedemonte, M , Minetti, C , Zara, F , Santorelli, FM & Bruno, C 2006, 'A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy', Biochemical and Biophysical Research Communications, vol. 342, no. 2, pp. 387-393. https://doi.org/10.1016/j.bbrc.2006.01.152

Cassandrini, Denise ; Calevo, Maria Grazia ; Tessa, Alessandra ; Manfredi, Giovanni ; Fattori, Fabiana ; Meschini, Maria Chiara ; Carrozzo, Rosalba ; Tonoli, Emmanuel ; Pedemonte, Marina ; Minetti, Carlo ; Zara, Federico ; Santorelli, Filippo M. ; Bruno, Claudio. / A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy. In: Biochemical and Biophysical Research Communications. 2006 ; Vol. 342, No. 2. pp. 387-393.

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abstract = "Determination of mitochondrial DNA (mtDNA) heteroplasmy for the diagnosis of patients with mitochondrial disorders is a difficult task due to the coexistence of wild-type and mutant genomes. We have developed a new method for genotyping and quantification of heteroplasmic point mutations in mtDNA based on the SNaPshot technology. We compared the data of this method with the widely used {"}last hot-cycle{"} PCR-RFLP method by studying 15 patients carrying mtDNA mutations. We showed that SNaPshot is an accurate, reproducible, and sensitive technique for the determination of heteroplasmic mtDNA mutations in different tissues from patients, and it is a promising system to be used in prenatal and postnatal diagnosis of mtDNA-associated disorders.",

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AU - Meschini, Maria Chiara

AU - Carrozzo, Rosalba

AU - Tonoli, Emmanuel

AU - Pedemonte, Marina

AU - Minetti, Carlo

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A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

Abstract

Keywords

ASJC Scopus subject areas

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